Intrauterine growth retardation, and Thrombocytopenia

Diseases related with Intrauterine growth retardation and Thrombocytopenia

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Thrombocytopenia that can help you solving undiagnosed cases.

Top matches:

Medium match HELLP SYNDROME

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, low platelets in pregnancy|preg1|pee

Related symptoms:

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HELLP SYNDROME

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

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.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Other less relevant matches:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw|cdg iw

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W

Medium match STT3B-CDG

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

STT3B-CDG Is also known as cdg syndrome type ix|congenital disorder of glycosylation type ix|cdg1x|carbohydrate deficient glycoprotein syndrome type ix|cdg-ix|congenital disorder of glycosylation type 1x

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about STT3B-CDG

Medium match STT3A-CDG

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

STT3A-CDG Is also known as congenital disorder of glycosylation type 1w|congenital disorder of glycosylation type iw|cdgix|cdg ix|cdg1w|cdg-iw|cdg syndrome type iw

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about STT3A-CDG

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H, for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB Is also known as fa2|facb|fanconi pancytopenia, type 2

Related symptoms:

  • Growth delay
  • Neoplasm
  • Low-set ears
  • Anemia
  • Intrauterine growth retardation


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Thrombocytopenia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Thrombocytopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Anemia Optic atrophy Feeding difficulties Failure to thrive Microcephaly Generalized hypotonia Abnormal glycosylation Scrotal hypoplasia Micropenis Respiratory distress Cryptorchidism

Rare Symptoms - Less than 30% cases

Hypertension Ventriculomegaly Autoimmunity Bone marrow hypocellularity Low-set ears Immunodeficiency Edema Diarrhea Decreased liver function Acidosis Lactic acidosis Lymphopenia Malnutrition Abnormality of the thyroid gland Esophageal stenosis Autoimmune hemolytic anemia Esophageal stricture Thyroiditis Oral leukoplakia Colitis Pulmonary fibrosis Leukopenia Ketoacidosis Ileus Nail dysplasia Pancreatic hypoplasia Abnormality of skin pigmentation Carious teeth Nail dystrophy Small for gestational age Postnatal growth retardation Ataxia Villous atrophy Immune dysregulation Cerebellar hypoplasia Depressivity Short stature Secretory diarrhea Intractable diarrhea Decreased antibody level in blood Athetosis Nystagmus Neurological speech impairment Hypoglycemia Rigidity Generalized amyotrophy Brisk reflexes Aggressive behavior Muscular hypotonia of the trunk Dysmetria Encephalopathy Tetraplegia Delayed myelination Increased serum lactate Spastic tetraplegia Amblyopia Exotropia Rod-cone dystrophy Absent speech Muscle weakness Spasticity Leukoencephalopathy Multifocal seizures Diffuse cerebral atrophy Epileptic spasms Hyperglycemia Limb hypertonia Delayed speech and language development Cerebral atrophy Visual impairment Hyperreflexia Skeletal muscle atrophy Tremor Cardiomyopathy Hypertonia Dystonia Abnormality of the coagulation cascade Hypothyroidism Erythroderma Pericardial effusion Trigonocephaly Pyloric stenosis Abnormality of the cardiovascular system Finger syndactyly Clinodactyly Syndactyly Long philtrum Hepatomegaly Ptosis Abnormal facial shape Micrognathia Hypertelorism Sideroblastic anemia Extramedullary hematopoiesis Oligohydramnios Prolonged bleeding time Ascites Metabolic acidosis EEG abnormality Arrhythmia Patent ductus arteriosus Respiratory insufficiency Ventricular septal defect Maternal hypertension Eclampsia Preeclampsia Cerebral hemorrhage Proteinuria Elevated hepatic transaminase Renal insufficiency Radial deviation of finger Megakaryocyte dysplasia Nephritis Abnormality of chromosome stability Eosinophilia Abnormal intestine morphology Type I diabetes mellitus Cardiac arrest Inflammatory abnormality of the skin Nephrotic syndrome Hepatitis Eczema Sepsis Hemolytic anemia Lymphadenopathy Arthritis Diabetes mellitus Recurrent infections Chromosome breakage Abnormality of the genital system Abnormal lung lobation Esophageal atresia Absent radius Absent thumb External genital hypoplasia Tracheoesophageal fistula Abnormal vertebral morphology Renal dysplasia Renal agenesis Anal atresia Hydrocephalus Neoplasm Impaired smooth pursuit Optic nerve hypoplasia Mitochondrial encephalopathy


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