Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR581 MIFTS: 35	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb Categories: Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Fetal diseases, Rare diseases, Genetic diseases
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Aliases & Classifications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

MalaCards integrated aliases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Name: Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb ⁵⁷

Nf1 Microdeletion Syndrome ⁵⁷ ¹² ⁵⁹ ⁷³

Chromosome 17q11.2 Deletion Syndrome, 1.4mb ⁵⁷ ¹² ¹⁵

Neurofibromatosis Type 1 Microdeletion Syndrome ¹² ⁵⁹

17q11 Microdeletion Syndrome ¹² ⁵⁹

Van Asperen Syndrome ⁵⁷ ¹²

Chromosome 17q11.2 Deletion Syndrome, 1.4 Mb ²⁹

Neurofibromatosis 1 Microdeletion Syndrome ⁵⁷

17q11.2 Microduplication Syndrome ⁵⁹

Grisart-Destrée Syndrome ⁵⁹

Trisomy 17q11.2 ⁵⁹

Monosomy 17q11 ⁵⁹

Dup(17)(q11.2) ⁵⁹

Del(17)(q11) ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

17q11.2 microduplication syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations

HPO:

³²

chromosome 17q11.2 deletion syndrome, 1.4-mb:
Inheritance autosomal dominant inheritance sporadic

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Minor partial trisomy

Other congenital malformations

Phakomatoses, not elsewhere classified

Neurofibromatosis (nonmalignant)

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

Rare circulatory system diseases

Rare renal diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 613675

Disease Ontology ¹² DOID:0060403

ICD10 ³³ Q85.0

Orphanet ⁵⁹ ORPHA139474 ORPHA97685

UMLS via Orphanet ⁷⁴ C3150928

ICD10 via Orphanet ³⁴ Q92.3 Q85.0

MedGen ⁴² C3150928

SNOMED-CT via HPO ⁶⁹ 263681008 248328003 301348000 more

UMLS ⁷³ C3150928

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Summaries for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

OMIM : ⁵⁷ Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003). (613675)

MalaCards based summary : Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb, also known as nf1 microdeletion syndrome, is related to chromosome 17q11.2 deletion syndrome and atypical neurofibroma. An important gene associated with Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb is DEL17Q11.2 (Chromosome 17q11.2 Deletion Syndrome). Affiliated tissues include bone, heart and skin, and related phenotypes are macroorchidism and thin vermilion border

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Related Diseases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	chromosome 17q11.2 deletion syndrome	11.6
2	atypical neurofibroma	10.3	NF1 SUZ12
3	athyreosis	10.2	NKX2-5 SLC26A4
4	endometrial stromal nodule	10.0	JAZF1 SUZ12

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Symptoms & Phenotypes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
lisch nodules (iris hamartomas) (93%)

Growth Other:
generalized overgrowth

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (31%)

Head And Neck Head:
macrocephaly (39%)

Skeletal:
bone cysts (50%)
increased joint laxity (72%)

Skeletal Hands:
large hands (46%)
accelerated carpal bone age

Muscle Soft Tissue:
hypotonia (45%)
soft fleshy palms (50%)

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit hyperactivity disorder (33%)
attention difficulties (73%)

Head And Neck Face:
facial asymmetry
coarse facies
facial dysmorphism (in up to 90%)

Skin Nails Hair Skin:
axillary freckling
inguinal freckling
neurofibromas, subcutaneous (76%)
neurofibromas, cutaneous (86%)
plexiform neurofibroma (76%)
more

Growth Height:
tall stature (46%)

Cardiovascular Heart:
congenital heart defects (21%)

Skeletal Spine:
scoliosis (43%)

Skeletal Feet:
large feet (46%)
pes cavus (17%)

Neurologic Central Nervous System:
delayed cognitive development/learning disabilities (93%)
mental retardation (38%)
speech difficulties (48%)
spinal neurofibromas (64%)
brain mri shows t2-weighted hyperintensities (17%)

Neoplasia:
optic glioma (19%)
malignant peripheral nerve sheath tumors (21%)

Clinical features from OMIM:

613675

Human phenotypes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

⁵⁹ ³² (show top 50) (show all 52)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macroorchidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000053
2	thin vermilion border ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000233
3	microcephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000252
4	malar flattening ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000272
5	sparse eyelashes ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000653
6	delayed speech and language development ⁵⁹ ³²	very rare (1%)	Occasional (29-5%)	HP:0000750
7	intellectual disability ⁵⁹ ³²	very rare (1%)	Frequent (79-30%)	HP:0001249
8	seizures ⁵⁹ ³²	very rare (1%)	Occasional (29-5%)	HP:0001250
9	global developmental delay ⁵⁹ ³²	very rare (1%)	Frequent (79-30%)	HP:0001263
10	short stature ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004322
11	deviated nasal septum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0004411
12	hypoplasia of dental enamel ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0006297
13	thick nasal alae ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0009928
14	bifid nose ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0011803
15	sparse eyebrow ⁵⁹		Occasional (29-5%)
16	abnormality of dental enamel ⁵⁹		Frequent (79-30%)
17	coarse facial features ³²	very rare (1%)		HP:0000280
18	hypertelorism ³²	very rare (1%)		HP:0000316
19	cafe-au-lait spot ³²	very rare (1%)		HP:0000957
20	neurofibromas ³²			HP:0001067
21	abnormal heart morphology ³²			HP:0001627
22	tall stature ³²	very rare (1%)		HP:0000098
23	macrocephaly ³²	very rare (1%)		HP:0000256
24	facial asymmetry ³²	very rare (1%)		HP:0000324
25	hearing impairment ³²	very rare (1%)		HP:0000365
26	low-set ears ³²	very rare (1%)		HP:0000369
27	broad neck ³²	very rare (1%)		HP:0000475
28	strabismus ³²	very rare (1%)		HP:0000486
29	pectus excavatum ³²	very rare (1%)		HP:0000767
30	axillary freckling ³²	very rare (1%)		HP:0000997
31	large hands ³²	very rare (1%)		HP:0001176
32	muscular hypotonia ³²	very rare (1%)		HP:0001252
33	generalized hypotonia ³²			HP:0001290
34	specific learning disability ³²	very rare (1%)		HP:0001328
35	joint hypermobility ³²	very rare (1%)		HP:0001382
36	overgrowth ³²			HP:0001548
37	pes cavus ³²	very rare (1%)		HP:0001761
38	long foot ³²	very rare (1%)		HP:0001833
39	scoliosis ³²	very rare (1%)		HP:0002650
40	attention deficit hyperactivity disorder ³²	very rare (1%)		HP:0007018
41	focal t2 hyperintense basal ganglia lesion ³²	very rare (1%)		HP:0007183
42	plexiform neurofibroma ³²	very rare (1%)		HP:0009732
43	optic nerve glioma ³²	very rare (1%)		HP:0009734
44	spinal neurofibromas ³²	very rare (1%)		HP:0009735
45	lisch nodules ³²	very rare (1%)		HP:0009737
46	bone cyst ³²	very rare (1%)		HP:0012062
47	inguinal freckling ³²			HP:0030052
48	abnormality of cardiovascular system morphology ³²	very rare (1%)		HP:0030680
49	cognitive impairment ³²	very rare (1%)		HP:0100543
50	neurofibrosarcoma ³²	very rare (1%)		HP:0100697

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Drugs & Therapeutics for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search Clinical Trials , NIH Clinical Center for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

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Genetic Tests for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genetic tests related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

#	Genetic test	Affiliating Genes
1	Chromosome 17q11.2 Deletion Syndrome, 1.4 Mb ²⁹

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Anatomical Context for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

MalaCards organs/tissues related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

⁴¹

Bone, Heart, Skin, Brain, Eye

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Publications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Articles related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

#	Title	Authors	Year
1	Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. ( 17380155 )	Piddubnyak V....Poyet J.L.	2007
2	NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. ( 10631140 )	Riva P....Larizza L.	2000

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Genes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb (2 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DEL17Q11.2	Chromosome 17q11.2 Deletion Syndrome	Genetic Locus	500	Structural variation ⁵⁷
2	NF1	Neurofibromin 1	Protein Coding	41.63	Role in the phenotype ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	UTP6	UTP6, Small Subunit Processome Component	Protein Coding	17.97	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	SEZ6	Seizure Related 6 Homolog	Protein Coding	16.65	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	SUZ12	SUZ12, Polycomb Repressive Complex 2 Subunit	Protein Coding	16.64	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	RNF135	Ring Finger Protein 135	Protein Coding	16.37	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	BLMH	Bleomycin Hydrolase	Protein Coding	15.93	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	JAZF1	JAZF Zinc Finger 1	Protein Coding	15.89	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	GIT1	GIT ArfGAP 1	Protein Coding	15.66	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	NKX2-5	NK2 Homeobox 5	Protein Coding	14.33	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	14.19	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	ASIC2	Acid Sensing Ion Channel Subunit 2	Protein Coding	13.76	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	ADAP2	ArfGAP With Dual PH Domains 2	Protein Coding	7.89	DISEASES inferred ¹⁵
14	NUFIP2	NUFIP2, FMR1 Interacting Protein 2	Protein Coding	6.82	DISEASES inferred ¹⁵
15	APIP	APAF1 Interacting Protein	Protein Coding	6.43	DISEASES inferred ¹⁵
16	GOSR1	Golgi SNAP Receptor Complex Member 1	Protein Coding	6.38	DISEASES inferred ¹⁵
17	TAOK1	TAO Kinase 1	Protein Coding	6.06	DISEASES inferred ¹⁵
18	TRAF4	TNF Receptor Associated Factor 4	Protein Coding	5.49	DISEASES inferred ¹⁵
19	PHF12	PHD Finger Protein 12	Protein Coding	5.42	DISEASES inferred ¹⁵
20	SUPT6H	SPT6 Homolog, Histone Chaperone	Protein Coding	5.4	DISEASES inferred ¹⁵

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Variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Copy number variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb from CNVD:

⁷

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	109502	17	26446120	26728821	Microdeletion	NF1	NF1 microdeletion syndrome

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Expression for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search GEO for disease gene expression data for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb.

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Pathways for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

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GO Terms for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Biological processes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	peripheral nervous system development	GO:0007422	8.62	ASIC2 NF1

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