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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
70 OMIM references -
63 associated genes
29 signs/symptoms
Apolipoprotein A-I deficiency
Retinitis pigmentosa

ABCA1 ABCA4
APOA1 AIPL1
ARL2BP
ARL6
BEST1
C2ORF71
C8ORF37
CA4
CDHR1
CERKL
CLRN1
CNGA1
CNGB1
CRB1
CRX
CYP4V2
DHDDS
EYS
FAM161A
FSCN2
GUCA1B
IDH3B
IMPDH1
IMPG2
KLHL7
LRAT
MAK
MERTK
NEK2
NR2E3
NRL
OFD1
PDE6A
PDE6B
PDE6G
PRCD
PROM1
PRPF3
PRPF31
PRPF6
PRPF8
PRPH2
RBP3
RDH12
RGR
RHO
RLBP1
ROM1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
SAG
SEMA4A
SNRNP200
SPATA7
TOPORS
TTC8
TULP1
USH2A
ZNF513


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ABCA1
(0.63)
PRPF8



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Retinitis pigmentosa
ABCA4 AIPL1 ARL2BP ARL6 BEST1 C2ORF71
C8ORF37 CA4 CDHR1 CERKL CLRN1 CNGA1
CNGB1 CRB1 CRX CYP4V2 DHDDS EYS
FAM161A FSCN2 GUCA1B IDH3B IMPDH1 IMPG2
KLHL7 LRAT MAK MERTK NEK2 NR2E3
NRL OFD1 PDE6A PDE6B PDE6G PRCD
PROM1 PRPF3 PRPF31 PRPF6 PRPF8 PRPH2
RBP3 RDH12 RGR RHO RLBP1 ROM1
RP1 RP1L1 RP2 RP9 RPE65 RPGR
SAG SEMA4A SNRNP200 SPATA7 TOPORS TTC8
TULP1 USH2A ZNF513



Apolipoprotein A-I deficiency
Retinitis pigmentosa

Synonym(s):
- ApoA-I deficiency
- Familial apoA-I deficiency
- Familial hypoalphalipoproteinemia

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D052456
External references:
70 OMIM references -
1 MeSH reference: D012174


COMMON
SIGNS
- Autosomal recessive inheritance


Apolipoprotein A-I deficiency
Retinitis pigmentosa

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Anaemia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatitis / icterus / cholestasis
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Lymphadenopathy / polyadenopathies
- Splenomegaly
- Storage liver disease



Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Abnormal scarring / cheloids / hypertrophic scars
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Broad nasal root
- Conductive deafness / hearing loss
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Mild visual loss / impaired visual acuity
- Night blindness / hemeralopia
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Photophobia
- Retinal vascular anomalies / retinal telangiectasia
- Retinitis pigmentosa / retinal pigmentary changes
- Sensorineural deafness / hearing loss
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Visual loss / blindness / amblyopia
- X-linked recessive inheritance

Frequent
- Cataract / lens opacification
- Generalized obesity
- Glaucoma
- Hyperinsulinism / hyperinsulinemia
- Keratoconus / keratoglobus
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy

Occasional
- Hypereflexia
- Insulin-independent / type 2 diabetes