Abnormal facial shape, and Abnormal bleeding

Diseases related with Abnormal facial shape and Abnormal bleeding

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormal bleeding that can help you solving undiagnosed cases.


Top matches:

Low match THROMBOCYTOPENIA 6; THC6

Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.

THROMBOCYTOPENIA 6; THC6 Is also known as thrombocytopenia, autosomal dominant, 6;

Related symptoms:

  • Autosomal dominant inheritance
  • Abnormal facial shape
  • Thrombocytopenia
  • Osteoporosis
  • Deeply set eye


SOURCES: UMLS ORPHANET MONDO OMIM

More info about THROMBOCYTOPENIA 6; THC6

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as pigmented micronodular adrenocortical disease, primary, 2, cushing syndrome, adrenal, due to ppnad2

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Hypertension
  • Kyphosis
  • Depressivity


SOURCES: MONDO MESH OMIM UMLS

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

Low match VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS

Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.

VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS Is also known as vascular malformation osseous;vmos, hemangioma, intraosseous;intraosseous hemangioma; osseous venous malformation

Related symptoms:

  • Autosomal recessive inheritance
  • Anemia
  • Pain
  • Hernia
  • Visual loss


SOURCES: UMLS MESH ORPHANET OMIM MONDO

More info about VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS

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Other less relevant matches:

Low match THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT Is also known as chromosome 11q23 deletion syndrome;

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Growth delay
  • Micrognathia
  • Ptosis


SOURCES: GARD ORPHANET MONDO OMIM UMLS

More info about THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4

Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 Is also known as cushing syndrome, adrenal, due to ppnad4, chromosome 19p13 duplication syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Muscle weakness
  • Hypertension
  • Depressivity
  • Alopecia


SOURCES: OMIM MONDO UMLS

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4

Low match GASTROINTESTINAL STROMAL TUMOR; GIST

Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons ({17,18:Miettinen et al., 1999, 1999}).GISTs can also be seen in neurofibromatosis-1 (NF1 ) due to mutations in the NF1 gene, and are thus distinct from the GISTs described here.Sandberg and Bridge (2002) reviewed the cytogenetics and molecular genetics of gastrointestinal stromal tumors. Coffey et al. (2007) reviewed the clinical features, pathogenesis, and molecular treatments of Menetrier disease (OMIM ) and GIST, both of which are hyperproliferative disorders of the stomach caused by dysregulated receptor tyrosine kinases.

GASTROINTESTINAL STROMAL TUMOR; GIST Is also known as ;gist; gastrointestinal stromal sarcoma

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Milia
  • Anemia
  • Neoplasm


SOURCES: MONDO OMIM GARD NCIT ICD10 MESH SCTID ORPHANET DOID

More info about GASTROINTESTINAL STROMAL TUMOR; GIST

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1, cushing syndrome, adrenal, due to ppnad1, adrenocortical nodular dysplasia, primary

Related symptoms:

  • Autosomal dominant inheritance
  • Milia
  • Neoplasm
  • Hypertension
  • Kyphosis


SOURCES: OMIM MONDO UMLS MESH

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Low match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: UMLS MONDO OMIM DOID

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Low match GLYCOGEN STORAGE DISEASE Ib; GSD1B

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE Ib; GSD1B Is also known as gsd ib, glucose-6-phosphate transport defect;g6p deficiency type ib; g6p translocase deficiency; g6pt deficiency; gsd due to g6p deficiency type ib; gsd due to g6pt deficiency; gsd type 1 non a; gsd type 1b; gsd type ib; gsdib; glycogen storage disease due to g6p deficiency type ib; glycogen storage disease type 1b; glycogen storage disease type ib; glycogenosis due to glucose-6-phosphatase deficiency type 1b; glycogenosis due to glucose-6-phosphatase transport defect type ib; glycogenosis type 1b; glycogenosis type ib

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Growth delay
  • Hepatomegaly
  • Hypertension


SOURCES: MONDO SCTID MESH GARD NCIT UMLS ORPHANET OMIM

More info about GLYCOGEN STORAGE DISEASE Ib; GSD1B

Low match POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE; PKD4

PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by Hartung and Guay-Woodford, 2014).For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (OMIM ).

POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE; PKD4 Is also known as polycystic kidney disease, autosomal recessive;arpkd, polycystic kidney and hepatic disease 1;pkhd1, polycystic kidney disease, infantile, type i, pkd3, formerly;ar-pkd

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Micrognathia
  • Milia
  • Hepatomegaly


SOURCES: ORPHANET OMIM SCTID NCIT MONDO

More info about POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE; PKD4

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormal bleeding

Symptoms // Phenotype % cases
Osteoporosis Common - Between 50% and 80% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormal bleeding. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Primary hypercortisolism Bruising susceptibility Osteopenia Depressivity Increased circulating cortisol level Pica Milia

Rare Symptoms - Less than 30% cases


Adrenal hyperplasia Depressed nasal ridge Mood changes Pigmented micronodular adrenocortical disease Paradoxical increased cortisol secretion on dexamethasone suppression test Anemia Intellectual disability Moon facies Hypertelorism Abnormality of the liver Neoplasm Growth delay Enlarged kidney Micrognathia Decreased circulating ACTH level Sporadic Onset Anxiety Striae distensae Kyphosis Mental deterioration Thrombocytopenia Round face Agitation Truncal obesity Thin skin Psychosis Lactic acidosis Very long chain fatty acid accumulation Short stature Elevated hepatic transaminase Proteinuria Hypoglycemia Delayed puberty Neutropenia Hypocholesterolemia Potter facies Nephrolithiasis Recurrent bacterial infections Pancreatitis Hyperlipidemia Focal segmental glomerulosclerosis Hematemesis Hypoplasia of the ear cartilage Gout Esodeviation Azotemia Steatorrhea Hyporeflexia Failure to thrive Sensorineural hearing impairment Motor delay Muscular hypotonia Cataract Dysarthria Wide nasal bridge Malar flattening Areflexia Abnormal electroretinogram Congenital onset Rod-cone dystrophy Flat face Dry skin Single transverse palmar crease Hepatic cysts Polyneuropathy Periportal fibrosis Strabismus Hypersplenism Xanthomatosis Xanthelasma Chronic kidney disease Stage 5 chronic kidney disease Pancreatic cysts Cholestasis Hepatic fibrosis Dehydration Abnormal lung morphology Renal hypoplasia/aplasia Polycystic kidney dysplasia Portal hypertension Oligohydramnios Neonatal death Multiple renal cysts Esophageal varix Atelectasis Chronic lung disease Congenital hepatic fibrosis Biliary tract abnormality Tubulointerstitial fibrosis Cholangitis Pulmonary hypoplasia Protuberant abdomen Respiratory insufficiency Portal fibrosis Hepatocellular carcinoma Oral ulcer Decreased glomerular filtration rate Lipemia retinalis Doll-like facies Splenomegaly Ventricular septal defect Atrial septal defect Renal cyst Renal insufficiency Vomiting Dilatation Polyhydramnios Macrotia Hepatosplenomegaly Ataxia Low-set, posteriorly rotated ears Abnormality of the kidney Nystagmus Gastrointestinal stroma tumor Hearing impairment Clinodactyly Spinal cord compression Diastasis recti Facial hyperostosis Ptosis Intrauterine growth retardation Tics Long philtrum Syndactyly Finger syndactyly Gingival bleeding Abnormality of the cardiovascular system Pyloric stenosis Trigonocephaly Radial deviation of finger Prolonged bleeding time Megakaryocyte dysplasia Muscle weakness Alopecia Diabetes mellitus Hiatus hernia Increased intracranial pressure Hirsutism Enlarged naris Deeply set eye Hypotelorism Epistaxis Menorrhagia Petechiae Large forehead Myelofibrosis Spontaneous, recurrent epistaxis Bone marrow hypercellularity Precocious puberty Pain Hernia Visual loss Proptosis Umbilical hernia Facial asymmetry Acrania Paraplegia Elevated alkaline phosphatase Proximal muscle weakness Emotional lability Generalized hypotonia Neoplasm of the colon Schwannoma Leiomyosarcoma Cutaneous mastocytosis Mastocytosis Neoplasm of the rectum Neoplasm of the small intestine Neoplasm of the stomach Esophageal neoplasm Neoplasm of the gastrointestinal tract Irregular hyperpigmentation Obesity Cerebral cortical atrophy Carcinoma Hypertrichosis Cortical dysplasia Renal cell carcinoma Adrenocortical carcinoma Yellow nodule Global developmental delay Neurofibromas Intestinal obstruction Increased body weight Coarse facial features Acne Fragile skin Adrenocortical adenoma Ecchymosis Dorsocervical fat pad Macronodular adrenal hyperplasia Dysphagia Fatigue Constipation Skin rash Hypermelanotic macule Nausea and vomiting Gastrointestinal hemorrhage Hyperpigmentation of the skin Sarcoma Urticaria Large hands Fibroma Eosinophilia Lipoma Absence of renal corticomedullary differentiation



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