Linear Skin Defects with Multiple Congenital Anomalies 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Linear Skin Defects with Multiple Congenital Anomalies 2

MalaCards integrated aliases for Linear Skin Defects with Multiple Congenital Anomalies 2:

Name: Linear Skin Defects with Multiple Congenital Anomalies 2 ⁵⁷ ⁷⁵ ²⁹ ⁶

Aplasia Cutis Congenita, Reticulolinear, with Microcephaly, Facial Dysmorphism, and Other Congenital Anomalies ⁵⁷ ⁷³

Lsdmca2 ⁵⁷ ⁷⁵

Aplcc ⁵⁷ ⁷⁵

Aplasia Cutis Congenita, Reticulolinear, with Microcephaly, Facial Dysmorphism, and Other Congenital Anomalies; Aplcc ⁵⁷

Aplasia Cutis Congenita, Reticulolinear, with Microcephaly, Facial Dysmorphism and Other Congenital Anomalies ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
x-linked dominant

Miscellaneous:
based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands

HPO:

³²

linear skin defects with multiple congenital anomalies 2:
Inheritance x-linked dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Cardiovascular diseases Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 300887

MedGen ⁴² C3550921 CN163066

MeSH ⁴⁴ D000015

UMLS ⁷³ C3550921

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Summaries for Linear Skin Defects with Multiple Congenital Anomalies 2

UniProtKB/Swiss-Prot : ⁷⁵ Linear skin defects with multiple congenital anomalies 2: A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities.

MalaCards based summary : Linear Skin Defects with Multiple Congenital Anomalies 2, is also known as aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies. An important gene associated with Linear Skin Defects with Multiple Congenital Anomalies 2 is COX7B (Cytochrome C Oxidase Subunit 7B). Affiliated tissues include skin, and related phenotypes are hypertelorism and global developmental delay

Description from OMIM: 300887

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Related Diseases for Linear Skin Defects with Multiple Congenital Anomalies 2

Diseases in the Linear Skin Defects with Multiple Congenital Anomalies 1 family:

Linear Skin Defects with Multiple Congenital Anomalies 2

Linear Skin Defects with Multiple Congenital Anomalies 3

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Symptoms & Phenotypes for Linear Skin Defects with Multiple Congenital Anomalies 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Height:
short stature (2/4 patients)

Head And Neck Face:
reticulolinear skin defects, congenital (4/4 patients)
high forehead (1/4 patients)
long philtrum (1/4 patients)
asymmetric face (1/4 patients)
small chin (2/4 patients)

Head And Neck Ears:
posteriorly rotated ears (1/4 patients)

Head And Neck Nose:
short nose (1/4 patients)

Cardiovascular Vascular:
pulmonary hypertension (1/4 patients)

Chest Breasts:
widely spaced nipples (1/4 patients)

Genitourinary Kidneys:
renal agenesis, left-sided (1/4 patients)

Skeletal Hands:
clinodactyly of fifth fingers (1/4 patients)

Skin Nails Hair Skin:
reticulolinear skin defects over face and neck (4/4 patients)
erythroderma, patchy, on cheeks and chin (1/4 patients)

Skin Nails Hair Skin Electron Microscopy:
cytoplasmic bodies, 80 nm to 100 nm, with electron-dense membrane, within keratinocytes of perilesional skin (1/4 patients)

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder (1/4 patients)

Head And Neck Head:
microcephaly (3/4 patients)

Head And Neck Neck:
reticulolinear skin defects, congenital (4/4 patients)

Head And Neck Eyes:
hypertelorism (2/4 patients)
limited eyelid closure (1/4 patients)
arched eyebrows (1/4 patients)
long upslanting palpebral fissures (1/4 patients)
myopia (1/4 patients)
more

Cardiovascular Heart:
atrial septal defect (1/4 patients)
ventricular hypertrophy (1/4 patients)
tetralogy of fallot (1/4 patients)

Chest External Features:
asymmetric thorax (1/4 patients)

Chest Diaphragm:
diaphragmatic hernia, right-sided (1/4 patients)

Genitourinary Ureters:
ureteral duplication, right-sided (1/4 patients)

Skeletal Feet:
sandal gap (1/4 patients)

Skin Nails Hair Skin Histology:
mild perivascular lymphocyte infiltrate in perilesional skin (1/4 patients)
regeneration of dermis in perilesional skin (1/4 patients)
no intraepidermal or subepidermal cleavage in perilesional skin (1/4 patients)
uninvolved skin unremarkable (1/4 patients)

Neurologic Central Nervous System:
psychomotor retardation (2/4 patients)
thin corpus callosum (1/4 patients)
delayed myelination (1/4 patients)

Clinical features from OMIM:

300887

Human phenotypes related to Linear Skin Defects with Multiple Congenital Anomalies 2:

³² (show all 23)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²	frequent (33%)	HP:0000316
2	global developmental delay ³²	frequent (33%)	HP:0001263
3	abnormal facial shape ³²	obligate (100%)	HP:0001999
4	short nose ³²	occasional (7.5%)	HP:0003196
5	microcephaly ³²	obligate (100%)	HP:0000252
6	visual impairment ³²	occasional (7.5%)	HP:0000505
7	short stature ³²	frequent (33%)	HP:0004322
8	long philtrum ³²	occasional (7.5%)	HP:0000343
9	pulmonary arterial hypertension ³²	occasional (7.5%)	HP:0002092
10	wide intermamillary distance ³²	occasional (7.5%)	HP:0006610
11	myopia ³²	occasional (7.5%)	HP:0000545
12	atrial septal defect ³²	occasional (7.5%)	HP:0001631
13	sandal gap ³²	occasional (7.5%)	HP:0001852
14	tetralogy of fallot ³²	occasional (7.5%)	HP:0001636
15	high forehead ³²	occasional (7.5%)	HP:0000348
16	highly arched eyebrow ³²	occasional (7.5%)	HP:0002553
17	hypoplasia of the corpus callosum ³²	occasional (7.5%)	HP:0002079
18	optic disc pallor ³²	occasional (7.5%)	HP:0000543
19	posteriorly rotated ears ³²	occasional (7.5%)	HP:0000358
20	aplasia cutis congenita ³²	obligate (100%)	HP:0001057
21	ventricular hypertrophy ³²	occasional (7.5%)	HP:0001714
22	short chin ³²	frequent (33%)	HP:0000331
23	delayed myelination ³²	occasional (7.5%)	HP:0012448

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Drugs & Therapeutics for Linear Skin Defects with Multiple Congenital Anomalies 2

Search Clinical Trials , NIH Clinical Center for Linear Skin Defects with Multiple Congenital Anomalies 2

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Genetic Tests for Linear Skin Defects with Multiple Congenital Anomalies 2

Genetic tests related to Linear Skin Defects with Multiple Congenital Anomalies 2:

#	Genetic test	Affiliating Genes
1	Linear Skin Defects with Multiple Congenital Anomalies 2 ²⁹	COX7B

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Anatomical Context for Linear Skin Defects with Multiple Congenital Anomalies 2

MalaCards organs/tissues related to Linear Skin Defects with Multiple Congenital Anomalies 2:

⁴¹

Skin

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Publications for Linear Skin Defects with Multiple Congenital Anomalies 2

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Genes for Linear Skin Defects with Multiple Congenital Anomalies 2

Genes related to Linear Skin Defects with Multiple Congenital Anomalies 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COX7B	Cytochrome C Oxidase Subunit 7B	Protein Coding	1028.97	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	9747372 23122588

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Variations for Linear Skin Defects with Multiple Congenital Anomalies 2

ClinVar genetic disease variations for Linear Skin Defects with Multiple Congenital Anomalies 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	COX7B	NM_001866.2(COX7B): c.196delC (p.Leu66Cysfs)	deletion	Pathogenic	rs397514583	GRCh37	Chromosome X, 77160711: 77160711
2	COX7B	NM_001866.2(COX7B): c.196delC (p.Leu66Cysfs)	deletion	Pathogenic	rs397514583	GRCh38	Chromosome X, 77905214: 77905214
3	COX7B	NM_001866.2(COX7B): c.41-2A> G	single nucleotide variant	Pathogenic	rs397514584	GRCh37	Chromosome X, 77158138: 77158138
4	COX7B	NM_001866.2(COX7B): c.41-2A> G	single nucleotide variant	Pathogenic	rs397514584	GRCh38	Chromosome X, 77902641: 77902641
5	COX7B	NM_001866.2(COX7B): c.55C> T (p.Gln19Ter)	single nucleotide variant	Pathogenic	rs397514585	GRCh37	Chromosome X, 77158154: 77158154
6	COX7B	NM_001866.2(COX7B): c.55C> T (p.Gln19Ter)	single nucleotide variant	Pathogenic	rs397514585	GRCh38	Chromosome X, 77902657: 77902657

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Expression for Linear Skin Defects with Multiple Congenital Anomalies 2

Search GEO for disease gene expression data for Linear Skin Defects with Multiple Congenital Anomalies 2.

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Pathways for Linear Skin Defects with Multiple Congenital Anomalies 2

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GO Terms for Linear Skin Defects with Multiple Congenital Anomalies 2

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