ECO
MCID: END059
MIFTS: 39

Endocrine-Cerebroosteodysplasia (ECO)

Categories: Bone diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Endocrine-Cerebroosteodysplasia

MalaCards integrated aliases for Endocrine-Cerebroosteodysplasia:

Name: Endocrine-Cerebroosteodysplasia 56 73 29 13 6 39 71
Endocrine-Cerebro-Osteodysplasia Syndrome 12 58 36 15
Eco Syndrome 12 58
Eco 56 73

Characteristics:

Orphanet epidemiological data:

58
endocrine-cerebro-osteodysplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in utero or as neonate


HPO:

31
endocrine-cerebroosteodysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Endocrine-Cerebroosteodysplasia

KEGG : 36 Endocrine-cerebro-osteodysplasia syndrome is a neonatal lethal recessive disorder found in an Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase have been reported in the disease.

MalaCards based summary : Endocrine-Cerebroosteodysplasia, also known as endocrine-cerebro-osteodysplasia syndrome, is related to ciliopathy and hydrolethalus syndrome 1. An important gene associated with Endocrine-Cerebroosteodysplasia is CILK1 (Ciliogenesis Associated Kinase 1). Affiliated tissues include bone, kidney and skin, and related phenotypes are malar flattening and low-set ears

Disease Ontology : 12 A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has material basis in mutation in the gene encoding intestinal cell kinase.

UniProtKB/Swiss-Prot : 73 Endocrine-cerebroosteodysplasia: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.

More information from OMIM: 612651

Related Diseases for Endocrine-Cerebroosteodysplasia

Diseases related to Endocrine-Cerebroosteodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 182)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 30.5 KIF7 KIAA0586
2 hydrolethalus syndrome 1 30.3 KIF7 KIAA0586 ARL13B
3 kala-azar 1 10.5
4 leishmaniasis 10.5
5 cleft palate, isolated 10.5
6 cutaneous leishmaniasis 10.4
7 chagas disease 10.4
8 hydrocephalus 10.3
9 filariasis 10.3
10 chikungunya 10.3
11 japanese encephalitis 10.3
12 visceral leishmaniasis 10.3
13 mastitis 10.2
14 plague 10.2
15 encephalitis 10.2
16 malaria 10.2
17 filarial elephantiasis 10.2
18 mucocutaneous leishmaniasis 10.2
19 west nile virus 10.1
20 helix syndrome 10.1
21 dengue disease 10.1
22 leptospirosis 10.1
23 joubert syndrome 23 10.1 KIF7 KIAA0586
24 joubert syndrome 15 10.1 KIF7 KIAA0586
25 hair whorl 10.0
26 schistosoma mansoni infection, susceptibility/ 10.0
27 triiodothyronine receptor auxiliary protein 10.0
28 schopf-schulz-passarge syndrome 10.0
29 klebsiella pneumonia 10.0
30 schistosomiasis 10.0
31 posttransplant acute limbic encephalitis 10.0
32 rapidly involuting congenital hemangioma 10.0
33 joubert syndrome 4 10.0 KIF7 ARL13B
34 cranioectodermal dysplasia 1 10.0 KIAA0586 ARL13B
35 hepatocellular carcinoma 10.0
36 papillomatosis, confluent and reticulated 10.0
37 methane production 10.0
38 epidemic typhus 10.0
39 lymphocytic leukemia 10.0
40 lyme disease 10.0
41 paracoccidioidomycosis 10.0
42 relapsing fever 10.0
43 diarrhea 10.0
44 disease of mental health 10.0
45 impotence 10.0
46 cerebral palsy 10.0
47 tularemia 10.0
48 newcastle disease 10.0
49 tick infestation 10.0
50 avian influenza 10.0

Graphical network of the top 20 diseases related to Endocrine-Cerebroosteodysplasia:



Diseases related to Endocrine-Cerebroosteodysplasia

Symptoms & Phenotypes for Endocrine-Cerebroosteodysplasia

Human phenotypes related to Endocrine-Cerebroosteodysplasia:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 low-set ears 31 HP:0000369
3 hydrocephalus 31 HP:0000238
4 wide nasal bridge 31 HP:0000431
5 brachydactyly 31 HP:0001156
6 cryptorchidism 31 HP:0000028
7 micrognathia 31 HP:0000347
8 midface retrusion 31 HP:0011800
9 cleft palate 31 HP:0000175
10 narrow chest 31 HP:0000774
11 micromelia 31 HP:0002983
12 wide intermamillary distance 31 HP:0006610
13 shield chest 31 HP:0000914
14 abnormality of the pinna 31 HP:0000377
15 ventriculomegaly 31 HP:0002119
16 hypospadias 31 HP:0000047
17 micropenis 31 HP:0000054
18 cleft upper lip 31 HP:0000204
19 holoprosencephaly 31 HP:0001360
20 sandal gap 31 HP:0001852
21 scrotal hypoplasia 31 HP:0000046
22 ambiguous genitalia 31 HP:0000062
23 abnormal cerebellum morphology 31 HP:0001317
24 aplasia/hypoplasia of the corpus callosum 31 HP:0007370
25 enlarged kidney 31 HP:0000105
26 depressed nasal tip 31 HP:0000437
27 adrenal hypoplasia 31 HP:0000835
28 sex reversal 31 HP:0012245
29 barrel-shaped chest 31 HP:0001552
30 syndactyly 31 HP:0001159
31 preaxial polydactyly 31 HP:0100258
32 natal tooth 31 HP:0000695
33 ulnar deviation of the hand 31 HP:0009487
34 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193
35 postaxial polydactyly 31 HP:0100259
36 microphallus 31 HP:0030260
37 hyperechogenic kidneys 31 HP:0004719

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
dysplastic ears

Head And Neck Nose:
wide nasal bridge
flattened nasal tip

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
ambiguous genitalia
microphallus
hypoplastic scrotum

Head And Neck Mouth:
cleft palate
cleft lip

Skeletal Limbs:
micromelia
shortened upper limbs
bowing of the forearms
widened proximal metaphyses of the femur and tibia

Chest Breasts:
widely spaced nipples

Endocrine Features:
hypoplastic adrenal glands
hypoplastic pituitary gland

Respiratory Larynx:
hypoplastic or absent epiglottis
hypoplastic or absent larynx

Genitourinary External Genitalia Female:
sex reversal with hypoplastic labial folds

Skeletal Pelvis:
hip abduction

Neurologic Central Nervous System:
hydrocephalus
ventriculomegaly
holoprosencephaly
pituitary agenesis
hypoplastic or absent corpus callosum
more
Skeletal Hands:
brachydactyly
syndactyly
preaxial polydactyly
postaxial polydactyly
ulnar deviation of the hands

Head And Neck Face:
micrognathia
midface hypoplasia
excess skin below skin

Chest External Features:
narrow chest
broad chest

Genitourinary Kidneys:
hyperechogenic kidneys
large kidneys
dilated cystic tubules

Head And Neck Teeth:
natal teeth

Head And Neck Eyes:
small, sunken eyes
fused eyelids (in some patients)

Genitourinary:
unfused urogenital folds

Genitourinary Bladder:
squamous metaplasia of bladder (uncommon)

Skeletal Feet:
sandal gap between first and second toes

Clinical features from OMIM:

612651

Drugs & Therapeutics for Endocrine-Cerebroosteodysplasia

Search Clinical Trials , NIH Clinical Center for Endocrine-Cerebroosteodysplasia

Genetic Tests for Endocrine-Cerebroosteodysplasia

Genetic tests related to Endocrine-Cerebroosteodysplasia:

# Genetic test Affiliating Genes
1 Endocrine-Cerebroosteodysplasia 29 CILK1

Anatomical Context for Endocrine-Cerebroosteodysplasia

MalaCards organs/tissues related to Endocrine-Cerebroosteodysplasia:

40
Bone, Kidney, Skin, Eye, Breast, Pituitary, Cerebellum

Publications for Endocrine-Cerebroosteodysplasia

Articles related to Endocrine-Cerebroosteodysplasia:

# Title Authors PMID Year
1
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. 61 56 6
27069622 2016
2
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. 56 6
19185282 2009
3
Activation of sonic hedgehog signaling by a Smoothened agonist restores congenital defects in mouse models of endocrine-cerebro-osteodysplasia syndrome. 61
31662288 2019
4
Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice. 61
29635032 2018
5
Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. 61
24853502 2014

Variations for Endocrine-Cerebroosteodysplasia

ClinVar genetic disease variations for Endocrine-Cerebroosteodysplasia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CILK1 NM_014920.4(CILK1):c.815G>A (p.Arg272Gln)SNV Pathogenic 640 rs118203918 6:52880897-52880897 6:53016099-53016099
2 CILK1 NM_014920.4(CILK1):c.358G>T (p.Gly120Cys)SNV Pathogenic 625143 rs1157785470 6:52895863-52895863 6:53031065-53031065

UniProtKB/Swiss-Prot genetic disease variations for Endocrine-Cerebroosteodysplasia:

73
# Symbol AA change Variation ID SNP ID
1 CILK1 p.Arg272Gln VAR_057994 rs118203918

Expression for Endocrine-Cerebroosteodysplasia

Search GEO for disease gene expression data for Endocrine-Cerebroosteodysplasia.

Pathways for Endocrine-Cerebroosteodysplasia

GO Terms for Endocrine-Cerebroosteodysplasia

Cellular components related to Endocrine-Cerebroosteodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.35 TMEM218 MOK KIF7 CILK1 ARL13B
2 ciliary basal body GO:0036064 9.33 KIF7 KIAA0586 CILK1
3 ciliary tip GO:0097542 9.32 KIF7 CILK1
4 ciliary base GO:0097546 9.26 MOK CILK1
5 cell projection GO:0042995 9.17 TMEM80 TMEM218 MOK KIF7 KIAA0586 CILK1

Biological processes related to Endocrine-Cerebroosteodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.16 KIAA0586 ARL13B
2 non-motile cilium assembly GO:1905515 8.96 TMEM80 ARL13B
3 cilium assembly GO:0060271 8.8 KIAA0586 CILK1 ARL13B

Sources for Endocrine-Cerebroosteodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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