MCID: MCR315
MIFTS: 22

Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Categories: Genetic diseases, Eye diseases, Skin diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

MalaCards integrated aliases for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

Name: Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 57 75 6
Sc4mol Deficiency 57 75
Mccpd 57 75
Microcephaly-Congenital Cataract-Psoriasiform Dermatitis Syndrome 59
Microcephaly, Congenital Cataracts, and Psoriasiform Dermatitis 6
Sterol-C4-Methyl Oxidase Deficiency 59
Smo Deficiency 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
heterozygotes exhibit subclinical metabolic and immunologic abnormalities
based on report of 2 unrelated patients (last curated february 2016)


HPO:

32
microcephaly, congenital cataract, and psoriasiform dermatitis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

OMIM : 57 SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014). (616834)

MalaCards based summary : Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis, is also known as sc4mol deficiency. An important gene associated with Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis is MSMO1 (Methylsterol Monooxygenase 1). Affiliated tissues include skin, neutrophil and bone, and related phenotypes are microcephaly and blepharitis

UniProtKB/Swiss-Prot : 75 Microcephaly, congenital cataract, and psoriasiform dermatitis: An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay.

Related Diseases for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Symptoms & Phenotypes for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Female:
delayed puberty

Head And Neck Eyes:
blepharitis
cataract, congenital

Neurologic Central Nervous System:
mental retardation, mild

Skeletal Limbs:
arthralgias
joint contractures, especially of lower extremities

Skin Nails Hair Skin Histology:
psoriasiform hyperplasia
dilated capillaries in dermal papillae
neutrophils in epidermis
neutrophils in stratum corneum
cd68-negative lipid-containing foamy cells in dermis

Skin Nails Hair Hair:
fine, lusterless hair

Growth Height:
short stature

Endocrine Features:
delayed puberty

Skeletal:
delayed bone age

Growth Weight:
low weight

Immunology:
elevated il6
markedly elevated ige
markedly elevated iga
increase in cd16+ activated granulocytes
increase in tlr2+ /tlr4- granulocytes
more
Skin Nails Hair Skin:
ichthyosiform erythroderma sparing the palms

Metabolic Features:
low total cholesterol
low hdl
low ldl


Clinical features from OMIM:

616834

Human phenotypes related to Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 blepharitis 32 HP:0000498
3 congenital cataract 32 HP:0000519
4 delayed puberty 32 HP:0000823
5 intellectual disability, mild 32 HP:0001256
6 global developmental delay 32 HP:0001263
7 failure to thrive 32 HP:0001508
8 delayed skeletal maturation 32 HP:0002750
9 arthralgia 32 HP:0002829
10 hypocholesterolemia 32 HP:0003146
11 decreased ldl cholesterol conncentration 32 HP:0003563
12 psoriasiform dermatitis 32 HP:0003765
13 short stature 32 HP:0004322
14 ichthyosis 32 HP:0008064

Drugs & Therapeutics for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Search Clinical Trials , NIH Clinical Center for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Genetic Tests for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Anatomical Context for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

MalaCards organs/tissues related to Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

41
Skin, Neutrophil, Bone, Eye

Publications for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Variations for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

75
# Symbol AA change Variation ID SNP ID
1 MSMO1 p.His173Gln VAR_076532 rs869025576
2 MSMO1 p.Tyr244Cys VAR_076533 rs760048191

ClinVar genetic disease variations for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MSMO1 NM_006745.4(MSMO1): c.519T> A (p.His173Gln) single nucleotide variant Pathogenic rs869025576 GRCh38 Chromosome 4, 165338766: 165338766
2 MSMO1 NM_006745.4(MSMO1): c.519T> A (p.His173Gln) single nucleotide variant Pathogenic rs869025576 GRCh37 Chromosome 4, 166259918: 166259918
3 MSMO1 NM_006745.4(MSMO1): c.731A> G (p.Tyr244Cys) single nucleotide variant Likely pathogenic rs760048191 GRCh38 Chromosome 4, 165341795: 165341795
4 MSMO1 NM_006745.4(MSMO1): c.731A> G (p.Tyr244Cys) single nucleotide variant Likely pathogenic rs760048191 GRCh37 Chromosome 4, 166262947: 166262947
5 MSMO1 NM_006745.4(MSMO1): c.736G> C (p.Gly246Arg) single nucleotide variant Pathogenic rs869025577 GRCh38 Chromosome 4, 165341800: 165341800
6 MSMO1 NM_006745.4(MSMO1): c.736G> C (p.Gly246Arg) single nucleotide variant Pathogenic rs869025577 GRCh37 Chromosome 4, 166262952: 166262952

Expression for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Search GEO for disease gene expression data for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis.

Pathways for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

GO Terms for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Sources for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

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69 SNOMED-CT via HPO
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73 UMLS
74 UMLS via Orphanet
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