ARCL2D
MCID: CTS043
MIFTS: 28

Cutis Laxa, Autosomal Recessive, Type Iid (ARCL2D)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Iid

MalaCards integrated aliases for Cutis Laxa, Autosomal Recessive, Type Iid:

Name: Cutis Laxa, Autosomal Recessive, Type Iid 58 76 30 6
Arcl2d 58 12 76
Autosomal Recessive Cutis Laxa Type Iid 12
Cutis Laxa, Autosomal Recessive, 2d 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on 3 patients (last curated march 2017)
variable cardiac and skeletal features may be present


HPO:

33
cutis laxa, autosomal recessive, type iid:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cutis Laxa, Autosomal Recessive, Type Iid

OMIM : 58 Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (617403)

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Iid, is also known as arcl2d. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iid is ATP6V1A (ATPase H+ Transporting V1 Subunit A). Affiliated tissues include skin, heart and cortex, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.

UniProtKB/Swiss-Prot : 76 Cutis laxa, autosomal recessive, 2D: A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.

Symptoms & Phenotypes for Cutis Laxa, Autosomal Recessive, Type Iid

Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iid:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 seizures 33 HP:0001250
4 failure to thrive 33 HP:0001508
5 inguinal hernia 33 HP:0000023
6 macrotia 33 HP:0000400
7 cataract 33 HP:0000518
8 wide nasal bridge 33 HP:0000431
9 delayed speech and language development 33 HP:0000750
10 hypertrophic cardiomyopathy 33 HP:0001639
11 retrognathia 33 HP:0000278
12 congestive heart failure 33 HP:0001635
13 atrial septal defect 33 HP:0001631
14 mask-like facies 33 HP:0000298
15 protruding ear 33 HP:0000411
16 motor delay 33 HP:0001270
17 disproportionate tall stature 33 HP:0001519
18 downslanted palpebral fissures 33 HP:0000494
19 bulbous nose 33 HP:0000414
20 blepharophimosis 33 HP:0000581
21 triangular face 33 HP:0000325
22 micropenis 33 HP:0000054
23 generalized hypotonia 33 HP:0001290
24 hypoplasia of the corpus callosum 33 HP:0002079
25 right bundle branch block 33 HP:0011712
26 gliosis 33 HP:0002171
27 entropion 33 HP:0000621

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
blepharophimosis
entropion
downslanting palpebral fissures
bilateral cataract

Neurologic Central Nervous System:
seizures
motor delay
hypotonia
speech delay
thin corpus callosum
more
Genitourinary External Genitalia Male:
inguinal hernia
micropenis

Head And Neck Face:
mask-like facies
triangular face
receding chin
short forehead
progeroid facies

Skeletal Hands:
camptodactyly

Skeletal Feet:
club feet

Muscle Soft Tissue:
abnormal fat distribution

Skin Nails Hair Skin Electron Microscopy:
reduced elastic fibers
fragmented elastic fibers
loosely packed collagen fibers
variable diameters of collagen fibers

Metabolic Features:
abnormal serum glycosylation

Head And Neck Ears:
low-set ears
large ears
prominent ears
simple folded helices

Growth Other:
failure to thrive
marfanoid habitus

Cardiovascular Heart:
atrial septal defect
cardiac failure
cardiomyopathy, hypertrophic
dilated ascending aorta
tortuous aortic arch
more
Head And Neck Nose:
bulbous nose
broad nasal bridge

Skeletal Pelvis:
dislocated hips

Skin Nails Hair Skin:
generalized skin wrinkling

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Skeletal:
flexion contractures of all joints

Clinical features from OMIM:

617403

Drugs & Therapeutics for Cutis Laxa, Autosomal Recessive, Type Iid

Search Clinical Trials , NIH Clinical Center for Cutis Laxa, Autosomal Recessive, Type Iid

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iid

Genetic tests related to Cutis Laxa, Autosomal Recessive, Type Iid:

# Genetic test Affiliating Genes
1 Cutis Laxa, Autosomal Recessive, Type Iid 30 ATP6V1A

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iid

MalaCards organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iid:

42
Skin, Heart, Cortex, Bone, Eye

Publications for Cutis Laxa, Autosomal Recessive, Type Iid

Articles related to Cutis Laxa, Autosomal Recessive, Type Iid:

# Title Authors Year
1
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. ( 28065471 )
2017
2
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract. ( 24459010 )
2014

Variations for Cutis Laxa, Autosomal Recessive, Type Iid

UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iid:

76
# Symbol AA change Variation ID SNP ID
1 ATP6V1A p.Gly72Asp VAR_078606 rs106050503
2 ATP6V1A p.Arg338Cys VAR_078607 rs106050503

ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iid:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V1A NM_001690.3(ATP6V1A): c.1012C> T (p.Arg338Cys) single nucleotide variant Pathogenic rs1060505036 GRCh38 Chromosome 3, 113794895: 113794895
2 ATP6V1A NM_001690.3(ATP6V1A): c.1012C> T (p.Arg338Cys) single nucleotide variant Pathogenic rs1060505036 GRCh37 Chromosome 3, 113513742: 113513742
3 ATP6V1A NM_001690.3(ATP6V1A): c.215G> A (p.Gly72Asp) single nucleotide variant Pathogenic rs1060505037 GRCh38 Chromosome 3, 113784227: 113784227
4 ATP6V1A NM_001690.3(ATP6V1A): c.215G> A (p.Gly72Asp) single nucleotide variant Pathogenic rs1060505037 GRCh37 Chromosome 3, 113503074: 113503074

Expression for Cutis Laxa, Autosomal Recessive, Type Iid

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Iid.

Pathways for Cutis Laxa, Autosomal Recessive, Type Iid

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iid

Sources for Cutis Laxa, Autosomal Recessive, Type Iid

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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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