Nama : Bonar Cerlang Kendarianto Hutauruk

NIM : 220100119

1. Fibrosis Sistik (Xq25)

Alel normal gen ini mengodekan suatu protein membran yang berfungsi daiam transpor ion
klorida antara sel-sel tertentu dan cairan ekstraselular. Saluran transpor kiorida ini cacat atau
tidak ada pada membran plasma anak-anak yang mewarisi dua alel resesif fibrosis sistik. Hasilnya
adalah konsentrasi klorida ekstraseiular yang tinggi secara abnormai, menyebabkan mukus yang
menyelubungi sel-sel tertentu menjadi lebih kental dan lengket daripada normal. Mukus
tertumpuk dalam pankreas, paru-paru, saluran pencernaan, dan organ-organ lain, menyebabkan
efek majemuk (pleiotropik), termasuk penyerapan nutrien dari usus secara buruk, bronchitis
kronis, dan infeksi bakteri yang berulang-ulang. Penelitian terbaru mengindikasikan bahwa
konsentrasi klorida ekstraselular yang tinggi juga turut menyebabkan infeksi dengan cara
melumpuhkan antibiotik aiamiah yang dibuat oieh beberapa sel tubuh.

2. Penyatik Sel-Sabit(11P15)

Penyakit sel-sabit disebabkan oleh pergantian satu asam amino dalam protein hemoglobin sel
darah merah. I(etika kandungan oksigen dalam darah penderita rendah (di dataran tinggi atau
dalam stres fisik, misalnya), molekul hemoglobin sei-sabit beragregasi membentuk tangkai
panjang yang merusak bentuk sel darah merah menjadi seperti sabit (lihat Peraga 5.22). Sel yang
berbentuk sabit dapat menggumpal dan menyumbat pembuluh darah kecii, seringkali
menyebabkan gejala-gejala lain di sekujur tubuh, termasuk kelemahan fisik, nyeri, kerusakan
organ, dan bahkan paralisis (lumpuh). Walaupun diperlukan dua alel sel-sabit agar seseorang
menampilkan penyakit sel-sabit versi penuh, keberadaan satu alel sel-sabit dapat memengaruhi
fenotipe. Dengan demikian, pada tingkat organisme, alel normal tidak dominan sepenuhnya
terhadap alel sel-sabit. Heterozigot, yang disebut memiliki sifat sel-sablf, biasanya sehat, namun
mungkin menderita beberapa gejala sel-sabit jika mengalami kekurangan oksigen dalam darah
untuk waktu yang cukup lama. Pada tingkat molekular, kedua aleikodominan. Hemoglobin
normal dan abnormal (sel-sabit) sama-sama dibuat pada heterozigot.

3. Penyakit Huntington(4p16)/

Penyakit Huntington (Huntington's disease), penyakit degenerasi sistem saraf, disebabkan oleh
alel dominan letal yang tidak memiliki efek fenotipik jelas sampai penderitanya berusia sekitar
35 sampai 45 tahun. Begitu dimulai, deteriorasi system saraf tidak dapat diperbaiki dan menjadi
fatal. Anak yang terlahir dari orangtua pemilik alel Huntington berpeluang 50% mewarisi alel
tersebut beserta kelainannya. Di Amerika Serikat,penyakit yang mengenaskan ini menyerang
sekitar satu di antara 10.000 orang.

4. Achondroplasia

 It is a genetic disorder in humans which leads to stunted growth or dwarfism. Individuals
suffering from this disorder have disproportionate and short limbs. They also have a stunted
structure, growing not more than 4 feet. The main causative factor for this condition is the
mutation of the FGFR3 gene which is located in the fourth chromosome. However, there is no
treatment for this condition.

5. Hereditary Hemochromatosis:

 Hereditary hemochromatosis is another condition which leads to over absorption of iron in the
intestine. Since excess iron cannot be eliminated from the body, it tends to accumulate in the
intestine and damage the nearby organs like the liver and from there, spread to the heart. The
symptoms of this disorder are loss of memory, impotence, muscle cramps and severe joint pain.

6. Hereditary Spherocytosis:

 In hereditary spherocytosis, the red blood cells or erythrocytes are produced in an abnormal
shape due to which the cell membrane gets ruptured. The damage of the erythrocytes results in
hemolytic anemia. This condition shows symptoms like increased fatigue, paleness of the skin
and jaundice. Other diseases in this category include Jackson Weiss Syndrome, Huntington’s
disease and galactosemia.

7. Tay-Sachs Disease: 15q23-q24

One autosomal recessive disease is the Tay-Sachs disease, which affects the nervous system, and
leads to the loss of motor skills. The symptoms of this disease include delayed growth, dementia,
irritability and sometimes even paralysis. Unfortunately, there is no treatment available to cure
this disorder and children affected by this disease don’t live longer than five years of age.

8. Polycystic Kidney Disease: 

Polycystic kidney disease is another rare condition which affects 1 out of 2,00,000 people. In this
condition, numerous cysts form on the kidneys, which may lead to kidney failure. The individual
suffering from this disorder will display symptoms like frequent urination as a result of increased
amount of urine in the body, enlarged spleen, bleeding in the gastrointestinal tract and high
blood pressure.

9. Usher Syndrome: 

Usher Syndrome is also a type of autosomal recessive disease which is a result of a faulty gene.
This syndrome is categorized into three types which can be seen in different age groups – type 1,
type 2 and type 3. In type 1, the sufferers are congenitally deaf or sometimes they become deaf
when they are a year old. Type 2 patients are born deaf and experience loss of vision during the
teens or early adulthood. Individuals having type 3 syndrome tend to lose both the power of
vision and hearing when they are 10 years of age. Sadly, a cure for this syndrome has not yet
been discovered.
10. Hereditary Fructose Intolerance:

 Hereditary fructose intolerance is yet another disorder where the individual lacks the enzyme,
aldolase B, which is required for the breakdown of the fructose molecules. This disorder can lead
to serious health hazards if not diagnosed in time. The symptoms observed are severe
abdominal pain, vomiting, dislike for sweet foods, irritation after eating foods rich in fructose,
etc. Other examples are sickle cell anemia, albinism, cystic fibrosis and phenylketonuria.

11. Color Blindness: 

Color blindness is a result of the mutated X chromosome. This can result in the damage to the
nerve, eye and sometimes even the brain and the individual suffering from this disorder is
unable to differentiate between colors. However for correction of this disorder, special types of
contact lenses and tinted filters prescribed by an ophthalmologist may enable the individual to
tell the difference between colors.

12. Hemophilia:

 Hemophilia is a blood related disorder where the blood in the affected individuals loses the
ability to coagulate or clot. This condition is passed on from the father to the daughters in the X
chromosome where she is only the carrier of the defective gene. She in turn passes this disorder
to her sons who become sufferers as they have the defective X chromosome and normal Y
chromosome. In some rare cases, females also tend to suffer from hemophilia. This disease is
also known as bleeder’s disease.

13. Muscular Dystrophy:

 Muscular dystrophy is a group of genetically inherited muscle disorders which results in the
wasting of the muscles. This condition is characterized by weakness in the skeletal muscles,
degeneration of the cells and tissues in the muscles and defective muscle proteins. Some of the
symptoms are observed during childhood, while some symptoms make an appearance in early
adulthood. Certain therapies like speech therapy, respiratory therapy and orthopedic surgery
are adopted to correct this disorder.

14. Hemochromatosis
Hemochromatosis that is inherited is another autosomal dominant disease. This genetic
condition is when the body absorbs too much iron. Iron is needed by the body to pass
oxygenated blood around the body. It doesn’t leave the body after being absorbed apart from
through blood loss, so if you get too much it can cause major health conditions. The organs
storing the iron can end up malfunctioning.

15.  spherocytosis

hereditary spherocytosis is a disorder that affects the red blood cells. Those with the abnormal
red blood cells can suffer from anemia and an enlarged spleen. The cells are affected on a
molecular level through the proteins. Most commonly the Band 3, Protein 4.2, spectrin, and
ankyrin proteins are the ones affected. The mutated cells find it harder to exchange oxygen and
carbon dioxide, which can halt the oxygen supply and cause health problems. The cells are more
likely to suffer some type of physical degradation over time.

16. Huntington

common autosomal dominant diseases and it affects the central nervous system and the brain.
There is currently no treatment to prevent the condition, but there are ways to manage the
development of it in later life. Most people with the active mutation will see signs when they are
30 or 40 years old. Rare forms can affect children of a younger age. Some of the side effects
include uncontrolled movements, behavioral changes, walking issues, swallowing difficulties,
and some cognitive problems, including memory and speech loss.

17. Tay-Sachs

autosomal recessive disease on the list is Tay-Sachs, which affects the central nervous system.
The motor skills of a child suffer in development. It can lead to serious issues including dementia,
delayed growth, and paralysis. There are also cognitive issues like irritability and memory
problems.

18.  Polycystic kidney disease

 Polycystic kidney disease is when the kidneys see cysts forming on them. The cysts can cause
blockages in the tubes and prevent the kidneys working properly. Of course, the kidneys are
necessary for getting rid of toxins from the body. Kidney failure is one of the most common side
effects of the condition. There aren’t any treatments, but doctors can be proactive to help
prevent full kidney failure. That will require some work from the patient, as it requires a change
in the diet.

19. Duchenne Muscular Dystrophy

Patients with Duchenne Muscular Dystrophy genetic condition will usually see symptoms by the
age of six. Muscle weakness and fatigue are the most common initial symptoms. The problems
usually start in the legs but will eventually affect the whole body. Most patients are in
wheelchairs from the age of 12

20. Acid Maltase Deficiency

21. Albinism
22. Angelman Syndrome
23. Canavan Disease
24. Charcot-Marie-Tooth Disease
25. Cri du Chat Syndrome
26. Duchenne Muscular Dystrophy
27. Fragile X Syndrome
28. Galactosemia
29. Gilbert’s Syndrome
 30. Joubert Syndrome
31. Klinefelter Syndrome
32. Krabbe Disease
33. Lesch-Nyhan Syndrome
34. Marfan Syndrome
35. Myotonic Dystrophy
36. Nail-Patella Syndrome
37. Neurofibromatosis
38. Noonan Syndrome
39. Pelizaeus-Merzbacher Disease
40. Phenylketonuria
41. Porphyria
42. Prader-Willi Syndrome
43. Prune Belly Syndrome
44. Retinoblastoma
45. Rett Syndrome
46. Rubinstein-Taybi Syndrome
47. Russell Silver Syndrome
48. Sanfilippo Syndrome
49. Shwachman Syndrome
50. Spina bifida
51. Smith-Magenis Syndrome
52. Stickler Syndrome
53. TAR Syndrome
54. Tay-Sachs Syndrome
55. Turner Syndrome
56. Usher Syndrome
57. Variegate Porphyria
58. Von Hippel-Lindau Syndrome
59. Waardenburg Syndrome
60. Wilson’s Disease
61. Wolf-Hirschhorn Syndrome
62. Xeroderma Pigmentosum

The Ultimate List of Hereditary Diseases (positivehealthwell[ness.com)